PDF(Pubmed)
Abstract：
Inherited retinal diseases (IRDs) are a large group of genetically and clinically diverse blinding eye conditions that result in progressive and irreversible photoreceptor degeneration and vision loss. To date, no cures have been found, although strides toward treatments for specific IRDs have been made in recent years. To accelerate treatment discovery, retinal organoids provide an ideal human IRD model. This review aims to give background on the development and importance of retinal organoids for the human-based in vitro study of the retina and human retinogenesis and retinal pathologies. From there, we explore retinal pathologies in the context of IRDs and the current landscape of IRD treatment discovery. We discuss the usefulness of retinal organoids in this context (as a patient-derived cell model for IRDs) to precisely understand the pathogenesis and potential mechanisms behind a specific IRD-causing variant of interest. Finally, we discuss the importance and promise of retinal organoids in treatment discovery for IRDs, now and in the future.
摘要：
遗传性视网膜疾病(IRD)是一大组遗传和临床上不同的致盲眼病,其导致进行性和不可逆的光感受器变性和视力丧失。迄今为止,没有找到治疗方法,尽管近年来在针对特定IRD的治疗方面取得了长足的进步。为了加速治疗发现，视网膜类器官提供了理想的人类IRD模型。这篇综述旨在为视网膜类器官的发展和重要性提供背景，用于基于人类的视网膜和人类视网膜发生和视网膜病理的体外研究。从那里,我们在IRD的背景下探索视网膜病变和IRD治疗发现的当前景观。我们讨论了视网膜类器官在这种情况下的有用性（作为患者来源的IRD细胞模型），以准确了解特定引起IRD的感兴趣变体背后的发病机理和潜在机制。最后,我们讨论了视网膜类器官在IRD治疗发现中的重要性和前景，现在和将来.
